Variant report

Variant	rs12088457
Chromosome Location	chr1:210418827-210418828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210417526..210420172-chr1:210543053..210546033,2	MCF-7	breast:
2	chr1:210418192..210421005-chr1:210465903..210469381,6	MCF-7	breast:
3	chr1:210417487..210419206-chr1:210423476..210426436,2	MCF-7	breast:
4	chr1:210412478..210415136-chr1:210418022..210419994,2	MCF-7	breast:
5	chr1:210417610..210419303-chr1:210546135..210547707,2	K562	blood:
6	chr1:210417610..210419697-chr1:210545782..210547707,3	K562	blood:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10489389	1.00[EUR][1000 genomes]
rs12088691	0.94[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1342134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17015995	1.00[EUR][1000 genomes]
rs17015999	1.00[EUR][1000 genomes]
rs17016011	1.00[EUR][1000 genomes]
rs17276856	1.00[EUR][1000 genomes]
rs55684632	1.00[EUR][1000 genomes]
rs55934820	1.00[EUR][1000 genomes]
rs56017967	1.00[EUR][1000 genomes]
rs57296511	1.00[EUR][1000 genomes]
rs57841462	1.00[EUR][1000 genomes]
rs58060889	1.00[EUR][1000 genomes]
rs61384712	1.00[EUR][1000 genomes]
rs73061730	1.00[EUR][1000 genomes]
rs73061735	1.00[EUR][1000 genomes]
rs73061738	1.00[EUR][1000 genomes]
rs73071940	1.00[EUR][1000 genomes]
rs73071956	1.00[EUR][1000 genomes]
rs73071958	1.00[EUR][1000 genomes]
rs73071959	1.00[EUR][1000 genomes]
rs73071965	1.00[EUR][1000 genomes]
rs73071973	1.00[EUR][1000 genomes]
rs73074132	1.00[EUR][1000 genomes]
rs74156110	1.00[EUR][1000 genomes]
rs74156112	1.00[EUR][1000 genomes]
rs74156113	1.00[EUR][1000 genomes]
rs74156114	1.00[EUR][1000 genomes]
rs74156116	1.00[EUR][1000 genomes]
rs74156118	1.00[EUR][1000 genomes]
rs74156121	1.00[EUR][1000 genomes]
rs74156122	1.00[EUR][1000 genomes]
rs74156123	1.00[EUR][1000 genomes]
rs74156149	1.00[EUR][1000 genomes]
rs9970953	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210407800-210424000	Weak transcription	Colonic Mucosa	Colon
2	chr1:210407800-210424000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:210407800-210424200	Weak transcription	Pancreas	Pancrea
4	chr1:210408000-210424000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:210410800-210424000	Weak transcription	Lung	lung
6	chr1:210410800-210424200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:210411200-210423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:210411400-210423800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:210411800-210422200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:210411800-210423600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:210411800-210423600	Weak transcription	Brain Anterior Caudate	brain
12	chr1:210411800-210423800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:210412000-210422800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:210412000-210423800	Weak transcription	Brain Angular Gyrus	brain
15	chr1:210414000-210421400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:210414000-210424000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:210414000-210424200	Weak transcription	Aorta	Aorta
18	chr1:210414000-210424400	Weak transcription	Ovary	ovary
19	chr1:210414400-210419600	Weak transcription	HUVEC	blood vessel
20	chr1:210414400-210424000	Weak transcription	NHEK	skin
21	chr1:210414800-210421400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:210414800-210423800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:210415000-210424000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:210415200-210423800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:210415400-210423800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:210415600-210422800	Weak transcription	Fetal Stomach	stomach
27	chr1:210415600-210423200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:210415800-210424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:210416000-210421600	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:210416200-210424000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:210417600-210419000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:210417600-210419200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:210417600-210419200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:210417600-210419200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:210417600-210420600	Enhancers	HSMM	muscle
36	chr1:210417800-210419800	Enhancers	HSMMtube	muscle
37	chr1:210418200-210420000	Enhancers	NH-A	brain
38	chr1:210418400-210419600	Weak transcription	Thymus	Thymus
39	chr1:210418600-210419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:210418600-210423200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:210418600-210423800	Weak transcription	NHDF-Ad	bronchial
42	chr1:210418800-210419800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:210418800-210423600	Weak transcription	HMEC	breast

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